Countries of ancestry reported by hemochromatosis probands and control subjects in Central Alabama

Ethnicity and Disease

Volumn 14, Issue 1, 2004, Pages 73-81

  Barton, Ellen H ^c   Barton, James C ^a,c,d   Hollowell, William W ^b   Acton, Ronald T ^a,b  

^a University of Alabama at Birmingham   (United States)

^b University of Alabama at Birmingham   (United States)

^c SOUTHERN IRON DISORDERS CENTER   (United States)

^d NONE   (United States)

Author keywords

Ancestry; C282Y; Hemochromatosis; HFE; Iron

Indexed keywords

HFE PROTEIN;

ADULT; AGED; ALLELE; AMERICAN INDIAN; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DENMARK; ETHNIC DIFFERENCE; EUROPE; FEMALE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; IRELAND; ITALY; MAJOR CLINICAL STUDY; MALE; POLAND; POPULATION RESEARCH; SCORING SYSTEM; STATISTICAL SIGNIFICANCE; UNITED KINGDOM; UNITED STATES;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALABAMA; ALLELES; EMIGRATION AND IMMIGRATION; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; HEMOCHROMATOSIS; HOMOZYGOTE; HUMANS; INDIANS, NORTH AMERICAN; INTERVIEWS; IRELAND; MALE; MIDDLE AGED; SCOTLAND;

EID: 1342288077     PISSN: 1049510X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (73)

1. Feder JN, Gnirke A, Thomas W, et at. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399-408.
2. Burke W, Thomson E, Khoury MJ, et al. Hemochromatosis: gene discovery and its implications for population-based screening. JAMA. 1998;280:172-178.
3. Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ. Geography of HFE C282Y and H63D mutations. Genet Test. 2000;4:183-198.
4. Porto G, de Sousa M. Variation in hemochromatosis prevalence and genotype in national groups. In: Barton JC, Edwards CQ, eds. Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment. Cambridge: Cambridge University Press; 2000:51-62.
5. Simon M, Le Mignon L, Fauchet R, et al. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a homozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet. 1987;41:89-105.
6. Malfroy L, Roth MP, Carrington M, et al. Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex. Genomics. 1997;43:226-231.
7. Lucotte G. Frequency analysis and allele map in favor of the Celtic origin of the C282Y mutation of hemochromatosis. Blood Cells Mol Dis. 2001;27:549-556.
8. Raha-Chowdhury R, Gruen J. Localization, allelic heterogeneity, and origins of the hemochromatosis gene. In: Barton JC, Edwards CQ, eds. Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment. Cambridge: Cambridge University Press; 2000: 75-90.
9. Olsson KS, Ritter B. Idiopatatisk hemokromatose. Tidfsskr Nor Laegeforen. 1981;29:101.
10. Olsson KS, Kristoffersson R, Sandberg L. HLA Markers of the Hemochromatosis Gene on the West Coast of Sweden. Budapest: European Iron Club Meeting; 1989.
11. Ajioka RS, Jorde LB, Gruen JR, et al. Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes. Am J Hum Genet. 1997;60:1439-1447.
12. Jazwinska EC. The ancestral haplotype in hemochromatosis. In: Barton JC, Edwards CQ, eds. Hemochromarosis. Genetics, Pathophysiology, Diagnosis, and Treatment. Cambridge: Cambridge University Press; 2000:91-98.
13. Fairbanks VF. Hemochromatosis: population genetics. In: Barton JC, Edwards CQ, eds. Hemochromatosis. Hemochromatosis. Genetics, Pathophysiology, Diagnosis, and Treatment. Cambridge: Cambridge University Press; 2000:42-50.
14. Logan FD. The Vikings in History. 2nd ed. London: Routledge; 1991.
15. Jones G. The Movement South and Southwest to 954: the British Isles, the Frankish Empire, and the Mediterranean. In: Jones G. A History of the Vikings. 2nd ed. Oxford: Oxford University Press; 1968:240.
16. Batey CE, Sheehan J. Viking Expansion and Cultural Blending in Britain and Ireland. In: Fitzhugh WW, Ward EI, eds. Vikings. The North Atlantic Saga. Washington, DC: Smithsonian Institution Press; 2000:127-141.
17. Morris CD. The Viking Age in Europe. In: Fitzhugh WW, Ward EI, eds. Vikings. The North Atlantic Saga. Washington, DC: Smithsonian Institution Press; 2000:99-102.
18. Rice NS. Laid Waste, Plundered, and Burned: Vikings in Frankia. In: Fitzhugh WW, Ward EI, eds. Vikings. The North Atlantic Saga. Washington, DC: Smithsonian Institution Press, 2000:116-126.
19. Steinberg KK, Cogswell ME, Chang JC, et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA. 2001;285:2216-2222.
20. Bender E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis. 1996;22:187-194.
21. Barton JC, Shih WWH, Sawada-Hirai R, et al. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cell Mol Dis. 1997; 23:135-145.
22. Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT. Two novel missense HFE mutations (I105T and G93R) and confirmation of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol Dis. 1999; 25:146-154.
23. Beutler E, Felitti V, Gelbart T, Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med. 2000;133: 329-337.
24. Marshall DS, Linfert DR, Tsongalis GJ. Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population. Int J Mol Med. 1999;4:389-393.
25. Bradley LA, Johnson DD, Palomaki GE, Haddow JE, Robertson NH, Ferrie RM. Hereditary hemochromatosis mutation frequencies in the general population. J Med Screen. 1998;5:34-36.
26. McDonnell SM, Hover A, Gloe D, Ou CY, Cogswell ME, Grummer-Strawn L. Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri. Am J Med. 1999; 107:30-37.
27. Garry PJ, Montoya GD, Baumgartner RN, Liang HC, Williams TM, Brodie SG. Impact of HLA-H mutations on iron stores in healthy elderly men and women. Blood Cells Mol Dis. 1997;23:277-287.
28. Deloughery TG, Wisner TW, Evans AJ, McWilliams JC, Henner WD, Press RD. Molecular detection and gene frequency in control populations of the common Cys282Tyr mutation implicated in hereditary hemochromatosis. Blood. 1996;88:490a.
29. MacClenahan K, Moran R, McDermott S, Longshore JW. Prevalence of hereditary hemochromatosis mutations in the upper savannah region of South Carolina. Proc Greenwood Genet Center. 2000;19:45-50.
30. Barton JC, Acton RT. Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: predictions from a model based on national, racial, and ethnic group composition in central Alabama. Genet Test. 2000;4:199-206.
31. Borwein ST, Ghent CN, Flanagan PR, Chamberlain MJ, Valberg LS. Genetic expression of hemochromatosis in Canadians. Clin Invest Med. 1983;6:171-179.
32. Barton JC, Acton RT, Edward CQ et al. Iron overload in African Americans: phenotypic and genotypic characterization of probands from central Alabama. In: A Symposium on Molecular Medicine and Hemochromatosis: At the Crossroads. Bethesda, Md: National Institute of Diabetes and Digestive and Kidney Diseases; 1998:43.
33. Barton JC, Acton RT. Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. Genet Med. 2001;3:294-300.
34. Barton JC, Edwards CQ, Bertoli LF, Shroyer TW, Hudson SL. Iron overload in African Americans. Am J Med. 1995;99:616-623.
35. Barton JC, Harmon L, Rivers C, Acton RT. Hemochromatosis: association of severity of iron overload with genetic markers. Blood Cells Mol Dis. 1996;22:195-204.
36. Barton JC, Shih WWH, Sawada-Hirai R, Bertoli LF, Acton RT, Rothenberg BE. Caucasian hemochromatosis mutation Cys282Tyr in African-American iron overload. J Invest Med. 1997;45:62a.
37. Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. Hereditary hemochromatosis. Clin Chim Acta. 1996;245:139-200.
38. Barton JC, Barton NH, Alford TJ. Diagnosis of hemochromatosis in a community hospital. Am J Med. 1997;103:498-503.
39. Scheuer PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with hemochromatosis. J Pathol Bacteriol 1962;84: 53-63.
40. Summers KM, Halliday JW, Powell LW. Identification of homozygous hemochromatosis subjects by measurement of hepatic iron index. Hepatology. 1990;12:20-25.
41. Roberts DL. Is Celtic skin different [abstact]? Br J Dermatol. 1996;135(suppl 47):34.
42. Long CC, Darke C, Marks R. Celtic ancestry, HLA phenotype, and increased risk of skin cancer. Br J Dermatol. 1998;138:627-630.
43. Willis G, Jennings BA, Goodman E, Fellows IW, Wimperis JZ. A high prevalence of HLAH 845A mutations in hemochromatosis patients and the normal population in eastern England. Blood Cells Mol Dis. 1997;23:288-291.
44. Merryweather-Clarke AT, Worwood M, Parkinson L, et al. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. Br J Haematol. 1998; 101:369-373.
45. Mullighan CG, Bunce M, Fanning GC, Marshall SE, Welsh KI. A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population. Gut. 1998;42:566-569.
46. Murphy S, Curran MD, McDougall N, Callender ME, O'Brien CJ, Middleton D. High incidence of the Cys282Tyr mutation in the HFE gene in the Irish population - implications for haemochromatosis. Tissue Antigens. 1998;52:484-488.
47. Rvan E, O'Keane C, Crowe J. Hemochromatosis in Ireland and HFE. Blood Cells Mol Dis. 1998;24:428-432.
48. Byrnes V, Ryan E, Barrett S, Kenny P, Mayne P, Crowe J. Genetic hemochromatosis, a Celtic disease: is it now time for population screening? Genet Test. 2001;5:127-130.
49. Miedzybrodzka Z, Loughlin S, Baty D, et al. Haemochromatosis mutations in North-East Scotland. Br J Haematol. 1999;106:385-387.
50. Jackson HA, Carter K, Darke C, et al. HFE mutations, iron deficiency, and overload in 10,500 blood donors. Br J Haematol. 2001; 114:474-484.
51. Jezequel P, Bargain M, Lellouche F, Geffroy F, Dorval I. Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany. Hum Genet. 1998;102:332-333.
52. Merryweather-Clarke AT, Simonsen H, Shearman JD, Pointon JJ, Nørgaard-Pedersen B, Robson KJH. A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. Hum Mutat. 1999;13:154-159.
53. Pickett AJ. Chapter XII. The English in Georgia. In: History of Alabama and Incidentally of Georgia and Mississippi, from the Earliest Period. 1851. Clerk's Office of the District Court of the United States for the Middle District of Alabama. Republished: Birmingham, Ala: Birmingham Book and Magazine Co; 1962:258-269.
54. Southerland HL Jr, Brown JE. The Federal Road through Georgia, the Creek Nation, and Alabama, 1806-1836. Tuscaloosa, Ala: The University of Alabama Press; 1989:1-198.
55. Marcum JP, Williams MW. Geography. Population. In: Wilson CR, Ferris W, eds. Encyclopedia of Southern Culture. Chapel Hill, NC: The University of North Carolina Press; 1989:555-556.
56. Miller RM. Ethnic Life. Germans. In: Wilson CR, Ferris W, eds. Encyclopedia of Southern Culture. Chapel Hill, NC: The University of North Carolina Press; 1989:429-430.
57. Alabama Census Returns 1820 and An Abstract of Federal Census of Alabama 1830. Alabama Historical Quarterly, Fall Issue, 1944. Montgomery, Ala: Alabama State Department of Archives and History; 1944:333-513.
58. US Census Bureau. Available at: http://factfinder.census.gov. Accessed on June 27, 2002.
59. US Census Bureau. Available at: http://www.census.gov/population/www/ancestry.html. Accessed on July 7, 2002.
60. Distante S, Berg JP, Lande K, Haug E, Bell H. High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression. Scand J Gastroenterol. 1999;34:529-534.
61. Campo S, Restuccia T, Villari D, et al. Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin. Liver. 2001;21:233-236.
62. Pozzato G, Zorat F, Nascimben F, et al. Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. Eur J Hum Genet. 2001;9:445-451.
63. Barosi G, Salvaneschi L, Grasso M, et al. High prevalence of a screening-detected, HFE-unrelated, mild idiopathic iron overload in Northern Italy. Haematologica. 2002;87: 472-478.
64. Moczulski DK, Grzeszczak W, Gawlik B. Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin. Med Sci Monit. 2001;7:441-443.
65. Barton JC, Acton RT, Prasthofer EF, Rivers CA. Hemochromatosis in a Lithuanian with HFE C282Y homozygosity and C282Y allele frequencies in the Baltic Sea region. Eur J Haematol. 2001;67:263-264.
66. Pickett AJ. History of Alabama and Incidentally of Georgia and Mississippi, from the Earliest Period. 1851. Clerk's Office of the District Court of the United States for the Middle District of Alabama. Republished: Birmingham, Ala: Birmingham Book and Magazine Co; 1962:1-685.
67. Williams WL. Ethnic Life. Cherokees. In: Wilson CR, Ferris W, eds. Encyclopedia of Southern Culture. Chapel Hill, NC: The University of North Carolina Press; 1989:423-424.
68. Paredes JA. Ethnic Life. Creeks. In: Wilson CR, Ferris W, Eds. Encyclopedia of Southern Culture. Chapel Hill, NC: The University of North Carolina Press; 1989:426.
69. Barton JC, Cheatwood SM, Key TJ, Acton RT. Hemochromatosis detection in a multiphasic health screening program at an Alabama forest products mill. J Occup Environ Med. 2002;44:745-751.
70. Barger BO, Acton RT, Soong S-J, Roseman JA, Balch CM, Crist W. The association of the HLA-DR4 with malignant melanoma in a Caucasian population from the southern U.S. Proc Am Assoc Cancer Res. 1981;22:71.
71. Acton RT, Barger BO, Go RCP, Roseman J, Soong S-J, Balch C. HLA-DR phenotypes predicts onset of melanoma in a subethnic group of Caucasians. Proc Am Assoc Cancer Res. 1981;24:189.
72. Smith BN, Kantrowitz W, Grace ND, et al. Prevalence of hereditary hemochromatosis in a Massachusetts corporation: is Celtic origin a risk factor? Hepatology. 1997;25:1439-1446.
73. Moodie SJ, Ang L, Stenner JM, et al. Testing for haemochromatosis in a liver clinic population: relationship between ethnic origin, HFE gene mutations, liver histology, and serum iron markers. Eur J Gastroenterol Hepatol. 2002;14:223-229.